Autosomal recessive idiopathic epilepsy in an inbred family from Turkey: identification of a putative locus on chromosome 9q32-33

PURPOSE: The study describes the clinical features of an inbred family from Turkey with three members affected by seizures and tests possible autosomal recessive (AR) inheritance by means of linkage analysis. METHODS: Personal and family history was obtained from each subject, and general physical, neurologic, and EEG examinations were performed. A set of 382 fluorescence-labeled markers was used for the initial genome-wide search. A further set of 83 markers was used to map the locus precisely and to exclude the remaining genome. RESULTS: Twelve individuals from three generations were examined. Two subjects were affected by idiopathic epilepsy, whereas, their brother experienced a single unprovoked generalized seizure. Two siblings affected by idiopathic epilepsy and their unaffected sister showed a photoparoxysmal response to photic stimulation. Nine family members reported migraine. The genome-wide search led to the identification of a unique homozygous, 15.1-cM region shared by subjects with seizures on chromosome 9q32-33 and providing a lod score of 2.9. This locus, however, was not associated with migraine in this pedigree. CONCLUSIONS: The study suggests that idiopathic epileptic traits with AR inheritance might be underestimated in the general population and that inbred pedigrees may represent powerful tools for the identification of AR genes.     

Effect of formaldehyde inhalation on Hsp70 in seminiferous tubules of rat testes: an immunohistochemical study

One parameter which might provide an insight into the underlying mechanism of the effect of formaldehyde (FA) inhalation on testicular tissue, is the assessment of heat shock protein 70 (Hsp70), which increases promptly in cells exposed to stress caused by chemical toxicity. Thus, following subchronic exposure at cytotoxic concentrations, we studied the immunohistochemical effect of FA inhalation on changes in Hsp70 content in testicular tissue. We used 18 albino Wistar rats divided into three groups, exposed to 0 (control), 5 and 10 ppm FA gas for a total of 91 days, 8 h/day, five days a week. Serum testosterone levels were determined using a chemiluminescent enzyme immunoassay. Testicular tissues were stained with Hematoxylin-Eosine and Hsp70 immunohistochemically performed. Diameters of seminiferous tubules and serum testosterone levels in animals inhaling FA were significantly decreased. In seminiferous epithelium stained for Hsp70, compared to those in the control group, the spermatogenetic cells in the experimental groups demonstrated an obvious increase in immunoreaction spermatides in the adluminal region and especially in the cytoplasm of spermatocytes. Immunoreaction of Hsp70 was detected in the spermatogonias of animals exposed to FA inhalation as opposed to those of the control group. Compared to the control, there was a significant increase in the immunoreactions observed not only in the cytoplasm of primary spermatocytes, but also spermatides in the adluminal region of the seminiferous tubules. In conclusion, FA gas may damage spermatogenetic cells and increase Hsp70 synthesis.     

Lack of SCN1A mutations in familial febrile seizures

PURPOSE: Mutations in the voltage-gated sodium channel subunit gene SCN1A have been associated with febrile seizures (FSs) in autosomal dominant generalized epilepsy with febrile seizures plus (GEFS+) families and severe myoclonic epilepsy of infancy. The present study assessed the role of SCN1A in familial typical FSs. METHODS: FS families were selected throughout a collaborative study of the Italian League Against Epilepsy. For each index case, the entire coding region of SCN1A was screened by denaturant high-performance liquid chromatography. DNA fragments showing variant chromatograms were subsequently sequenced. RESULTS: Thirty-two FS families accounting for 91 affected individuals were ascertained. Mutational analysis detected a single coding variant (A3169G) on exon 16. The extended analysis of all family members and 78 normal controls demonstrated that A3169G did not contribute to the FS phenotype. CONCLUSIONS: Our study demonstrated that SCN1A is not frequently involved in common FSs and suggested the involvement of specific FS genes.     

Comparison of readmission rates between groups with early versus late discharge after vaginal or cesarean delivery: a retrospective analyzes of 14,460 cases

Aim: The aim of this retrospective analysis was to show the readmission rate of cases with and without early discharge following vaginal or cesarean delivery.

Methods: After exclusion of cases with pregnancy, delivery and neonatal complications, a total of 14,460 cases who delivered at Zeynep Kamil Women and Children’s Health Training and Research Hospital were retrospectively screened from hospital database. Subjects were divided into two groups as Group 1: early discharge (n?=?6802) and Group 2: late discharge (n?=?7658). Groups were compared in terms of readmission rates and indications for readmission.

Results: There were 6802 cases with early discharge whereas the remaining women were discharged after 24?h for vaginal delivery and 48?h following cesarean delivery on regular bases. Among cases with early discharge, 205 (3%) cases readmitted to emergency service with variable indications, while there were 216 (2.8%) readmitted women who were discharged on regular bases. Most common indication for readmission was wound infection in both groups. Neonatal sex distributions were similar between groups (p?>?.05), where as there was a higher rate of cesarean deliveries in Group 2 (p?p?Conclusion: Similar readmission rates were observed in groups with early and late discharges following vaginal or cesarean delivery without any mortality or permanent morbidity and cost analyses revealed 68 Turkish liras lower cost with early discharge.     

Rhomboid excision and Limberg flap for managing pilonidal sinus: results of 102 cases

PURPOSE: Although many methods of surgical and nonsurgical approaches for treatment of pilonidal sinus have been proposed, an optimal treatment modality has not been achieved yet. The aim of this study was to determine advantages, disadvantages, and long-term results of rhomboid excision and Limberg flap procedure. METHOD: One hundred ten patients who had been treated with rhomboid excision and Limberg flap procedure for primary or recurrent pilonidal sinus were invited to the hospital. One hundred two patients responded and were asked about their complaints and satisfaction with treatment. Physical examination was performed on each patient, and their hospital records were reviewed. RESULTS: Three patients developed seroma with negative bacterial cultures, two patients had partial wound dehiscence, and one patient had purulent discharge. Mean length of hospital stay was 3.7 days, and mean time to return to normal activity was seven days. Five patients developed recurrence (4.9 percent) and except for these patients, all of the patients were satisfied with the final result. CONCLUSION: Rhomboid excision and Limberg flap procedure can be performed for managing primary or recurrent pilonidal sinus with a low complication rate, short hospital stay, short time to return to normal activity, and good long-term results.     

Long-term Results of Percutaneous Biliary Balloon Dilation Treatment for Benign Hepaticojejunostomy Strictures: Are Repeated Balloon Dilations Necessary?

PurposeTo determine the safety, efficacy, and long-term results of percutaneous biliary balloon dilation (PBBD) of benign hepaticojejunostomy strictures and evaluate the necessity of repeated PBBD in this setting.Materials and MethodsPBBD was performed after traversing hepaticojejunostomy strictures in 89 patients (40 male, 49 female; age range, 19–84 y; mean age ± SD, 54.5 y ± 14.0), who were divided into three groups: group I (one satisfactory initial PBBD; n = 41), group II (two or more PBBDs with satisfactory initial PBBD; n = 33), and group III (two or more PBBDs without satisfactory PBBD; n = 15). Groups I and II were randomized. The primary outcome measure was the absence of clinical biliary obstruction symptoms at 24 months. Secondary outcome measures included technical and clinical success, primary and secondary patency, major complications, and mortality. Categoric variables were compared between groups I and II.ResultsProcedure-related mortality and major morbidity rates were 0% and 5.6%, respectively. Mean primary and secondary patency durations were 45.3 months ± 2.2 and 71.3 months ± 15.4, respectively. The follow-up period was 36.4 months ± 15.1. The primary outcome measure was achieved in 73% of patients. Technical and clinical success rates (secondary outcome measures) were 97.8% and 84.3%, respectively. Repeated PBBD procedures were not satisfactory in 16.9% of patients. No significant differences in categoric variables were observed between groups I and II.ConclusionsPBBD of benign hepaticojejunostomy strictures is a safe and effective procedure. Repeated PBBD is not required when the first procedure is successful.     

Timing of elective laparoscopic cholecystectomy after endoscopic retrograde cholangiopancreaticography with sphincterotomy: a prospective observational study of 308 patients

Purpose  

Endoscopic retrograde cholangiopancreaticography (ERCP) with sphincterotomy is associated with higher rates of conversion to open surgery during subsequent laparoscopic cholecystectomy (LC). The mechanisms of this association are unclear. The aim of this study was to investigate whether the time interval between the two procedures can affect the course of LC in terms of conversion rate or complications.     

Postoperative hemorrhagic complications after elective laparoscopic cholecystectomy in patients receiving long-term anticoagulant therapy

Background and aims  

Among patients on long-term anticoagulant therapy who undergo laparoscopic cholecystectomy (LC), bleeding complications have not been extensively investigated. The objective of this study was therefore to investigate postoperative bleeding complications prospectively in patients on chronic oral anticoagulation.     

Effects of melatonin on Leydig cells in pinealectomized rat: an immunohistochemical study

We have investigated immunohistochemically the effects of melatonin on Leydig cells in rat. Three groups of Wistar rats were used. Rats in group I and II were sham-pinealectomized (control) and pinealectomized, respectively, whereas rats in group III were pinealectomized and injected daily with melatonin for 2 months. At the end of the experiment, all animals were killed by decapitation and blood samples were obtained. Serum testosterone levels were determined with the use of a chemiluminescent enzyme immunoassay. Testicular tissue was collected and processed for semiquantitative evaluation of immunohistochemical testosterone staining. Intensity of immunostaining was determined on a scale between 0 (no staining) and 5 (heavy staining). In pinealectomized rats, serum testosterone levels were significantly increased as compared to sham-pinealectomized rats. Daily administration of melatonin after pinealectomy resulted in significant decreased serum testosterone levels as compared to levels in control and pinealectomized rats. Immunostaining of testosterone was moderate (3+) in sham-pinealectomized rats, heavy (5+) in pinealectomized rats and low (1+) in pinealectomized rats that were treated with melatonin, respectively. The results of our study indicate that pinealectomy induces increased testosterone secretion in Leydig cells and this increased secretion can be prevented by administration of melatonin.